[r14 syndrome without major dysmorphism].
An 8-year-old boy, mentally retarded and epileptic since the age of six months, was found carrier of ring 14 chromosome. A dystrophy of the eye fundi was observed (whitish puncta of the macula); except for the "almond shaped eyes", there was no obvious dismorphism.
de Blois
M C
MC
Centre de Recherches en Génétique Humaine, Institut de Progénèse, Paris, France.
Caille
B
B
Rethoré
M O
MO
Dufier
J L
JL
Lejeune
J
J
D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics* / Q000473:pathology; D025063:Chromosome Disorders; D002883:Chromosomes, Human, Pair 14 / Q000648:ultrastructure*; D004827:Epilepsy / Q000235:genetics; D005124:Eye Abnormalities / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008266:Macula Lutea / Q000002:abnormalities; D008297:Male; D012303:Ring Chromosomes; D013577:Syndrome
Syndrome r14 sans dysmorphie majeure.